Celsr1–3 Cadherins in PCP and Brain Development - Current Topics in Developmental Biology - page 166

mutations
Gene Allele Phenotype

Celsr1 Celsr1 Crsh and

Scy

Heterozygotes have inner ear PCP abnormalities,
head shaking, looptail, and abnormal FBM neuron
migration. Homozygotes are embryonic lethal with
open neural tube.

Celsr1 KO Heterozygotes are normal and fertile.

Homozygotes are viable but mostly sterile. About
20% die at embryonic stages with neural tube closure
defects. Adults have abnormal behavioral traits, a
looping tail, and abnormal skin hair patterning. The
direction of FBM neuron migration is affected.

Celsr2 Celsr2 Dgen Heterozygotes are normal and fertile.

Homozygotes are fertile, except for some females
with vaginal atresia. There is abnormal trajectory of
FBM neuron migration and hydrocephalus due to
defective ependymal ciliogenesis.

Celsr2 Dgen

Heterozygotes are normal and fertile.
Homozygotes are fertile and have abnormal FBM
neuron migration.

Celsr3 Celsr3 KO and

Celsr3 F

Heterozygotes are normal and fertile.
Homozygotes die in few hours after birth and have
severe axonal defects.

Fzd3 Fzd3 KO Heterozygotes are normal and fertile.

Homozygotes die in few hours after birth and have
axonal defects similar to those in Celsr3 mutants.
Some have loop tail or open neural tube and PCP
phenotype in the inner ear. The trajectory of FBM
neuron migration is affected and mimics Celsr2 and 3
double KO.

Fzd6 Fzd6 KO Homozygous mutants survive and breed, and have

abnormal skin hair patterning.

Vangl2 Vangl2 Lp

(Looptail)

Some heterozygotes have kinked or looped tails.
Homozygotes do not survive due to open neural
tube, loop tail, inner ear PCP defects, FBM neuron
migration defects, and other defects in
cardiovascular, skeletal, and respiratory systems.

Vangl2 KO and
Vangl2 F

Heterozygotes are normal and fertile.

Homozygote nulls have open neural tube and other
PCP defects in the inner ear.